Skip to Main Content

Author Details

Nicola K Ragge
Oxford Brookes University
1987
91
35
PMIDPaper TitleJournal TitlePublished Year
36207621Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.Eur J Hum Genet2023
37586836Clinical, genetic and biochemical signatures of <i>RBP4</i>-related ocular malformations.J Med Genet2023
37106145Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.Eur J Hum Genet2023
36997679Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.Eur J Hum Genet2023
37092537Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.Genet Med2023
33437032Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.Eur J Hum Genet2021
33244165De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.Genet Med2021
32885237Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.Hum Mol Genet2020
32015378Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.J Hum Genet2020
29464339New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Hum Genet2019
29974297Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.Hum Genet2019
31385022Editorial to the special issue on "Molecular Genetics of Developmental Eye Disorders".Hum Genet2019
31402090De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.Am J Hum Genet2019
31392423Through the looking glass: eye anomalies in the age of molecular science.Hum Genet2019
30842225<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia.J Med Genet2019
30762128Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Hum Genet2019
29136273FOXE3 mutations: genotype-phenotype correlations.Clin Genet2018
29405783Identification of PITX3 mutations in individuals with various ocular developmental defects.Ophthalmic Genet2018
29460469Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.Am J Med Genet A2018
28067911De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.Nat Genet2017
28343630De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.Am J Hum Genet2017
28801591New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.Sci Rep2017
28735298<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity.J Med Genet2017
27844144Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Hum Genet2017
27103084Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.Am J Med Genet A2016
27350610Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.BMC Res Notes2016
27412952The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial disease.J Med Genet2016
25325185Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.Clin Dysmorphol2015
22834934SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?Clin Genet2013
24075189Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.Am J Hum Genet2013
24227733Early auditory processing in area V5/MT+ of the congenitally blind brain.J Neurosci2013
23312594ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.Am J Hum Genet2013
22686418Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.Clin Genet2013
22126750How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.Eur J Hum Genet2012
22612860The fate of the oculomotor system in clinical bilateral anophthalmia.Vis Neurosci2012
22427328Language networks in anophthalmia: maintained hierarchy of processing in 'visual' cortex.Brain2012
22054996Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.Ophthalmology2012
20574025Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.Invest Ophthalmol Vis Sci2011
22171155Parent-of-origin effects in SOX2 anophthalmia syndrome.Mol Vis2011
20414678Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.Hum Genet2010
21070663Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.BMC Genet2010
20506283Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.Hum Mutat2010
20425842Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.Am J Med Genet A2010
20396904A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.Hum Genet2010
19708017Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.Hum Mutat2009
19892766Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex.Brain2009
19626132Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies.Mol Vis2009
19685247Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.Hum Genet2009
19641633MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies.Mol Vis2009
18252212Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.Am J Hum Genet2008
  • 1 - 50 of 91

Recommended Authors

University of Manchester
Career Start Year 2009
Number of shared co-authors 11
Invitae Corporation
Career Start Year 2009
Number of shared co-authors 3
University of Virginia
Career Start Year 2008
Number of shared co-authors 7
Institute for Vision Research, Carver College of Medicine, University of Iowa
Career Start Year 2008
Number of shared co-authors 1
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 5
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 6
University Eye Hospital Jules Gonin
Career Start Year 2002
Number of shared co-authors 2
Institute of Ophthalmology, University College London
Career Start Year 2001
Number of shared co-authors 20
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 24
Guy's and St Thomas' Hospital
Career Start Year 2000
Number of shared co-authors 26
Human Genetics and Genome Research Institute, National Research Centre
Career Start Year 1999
Number of shared co-authors 13
University of British Columbia
Career Start Year 1997
Number of shared co-authors 5
Charite Universitaetsmedizin Berlin
Career Start Year 1996
Number of shared co-authors 11
University of Washington
Career Start Year 1996
Number of shared co-authors 14
Institute of Ophthalmology, University College London
Career Start Year 1993
Number of shared co-authors 23
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 12
University of California
Career Start Year 1991
Number of shared co-authors 20
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 17
National Human Genome Research Institute, The National Institutes of Health
Career Start Year 1990
Number of shared co-authors 11
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Career Start Year 1990
Number of shared co-authors 11
College of Medicine and Health Sciences, United Arab Emirates University
Career Start Year 1988
Number of shared co-authors 27
College of Animal Science and Technology, Guangxi University
Career Start Year 1987
Number of shared co-authors 5
Maastricht University Medical Centre
Career Start Year 1987
Number of shared co-authors 42
Cincinnati Children's Hospital Medical Center
Career Start Year 1985
Number of shared co-authors 5
UCL Institute of Ophthalmology, University College London
Career Start Year 1984
Number of shared co-authors 31
University of Iowa Carver College of Medicine
Career Start Year 1984
Number of shared co-authors 2
Carver College of Medicine, University of Iowa, USA Institute for Vision Research
Career Start Year 1983
Number of shared co-authors 6
Carver College of Medicine, University of Iowa
Career Start Year 1980
Number of shared co-authors 13
Rare Disease Institute, Children's National Hospital
Career Start Year 1971
Number of shared co-authors 9
Casey Eye Institute, Oregon Health & Science University
Career Start Year 1967
Number of shared co-authors 5

Collaborators

University of British Columbia
Co-authored papers 11
Oxford Brookes University
Co-authored papers 9
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 8
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 7
Co-authored papers 4
University College Dublin
Co-authored papers 4
UCL Institute of Neurology
Co-authored papers 3
McGill University, Canada Montreal Neurological Institute and Hospital
Co-authored papers 2
Radboud University Medical Center
Co-authored papers 2
Newcastle University
Co-authored papers 2
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Co-authored papers 2
NIHR Oxford Biomedical Research Centre
Co-authored papers 2
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
Cincinnati Children's Hospital Medical Center
Co-authored papers 2
McGill University
Co-authored papers 2
Institute of Human Development, University of Manchester
Co-authored papers 2
Co-authored papers 2
Co-authored papers 2
University of Minnesota
Co-authored papers 2
Belfast City Hospital
Co-authored papers 2
University of Manchester
Co-authored papers 2
Birmingham Women's and Children's NHS Foundation Trust
Co-authored papers 2
Cambridge University Hospital, NHS Foundation Trust
Co-authored papers 1
Center for Epigenetics, Van Andel Research Institute
Co-authored papers 1
National Institutes of Health, National Human Genome Research Institute
Co-authored papers 1
Co-authored papers 1
Duke University School of Medicine
Co-authored papers 1
Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin
Co-authored papers 1
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Duke University School of Medicine
Co-authored papers 1